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Article 35 of the GDPR requires that data controllers perform a Data Protection Impact Assessment (DPIA) before processing personal data if the processing “is likely to result in a high risk to the rights and freedoms of natural persons.”

GDPR Brief: Codes of Conduct under the GDPR: A Useful but Challenging Tool to Enable Responsible International Data Sharing

Under the GDPR, organizations within a given sector or representative body can develop Codes of Conduct to help overcome key data protection challenges. Developing an approved Code is a serious endeavour and difficult to achieve, but can be of great benefit, including by better enabling responsible international data sharing in genomics and health-related research. Such Codes complement rather than supersede the GDPR.

The GDPR now explicitly mentions, and even defines, pseudonymisation, namely the processing of personal data so they can no longer be attributed to a specific data subject without the use of additional information (provided certain measures are in place to prevent re-identification). Coding is commonly used in health research and can, in some cases, act as a pseudonymisation technique. The question arises as to whether pseudonymised data are no longer personal data and hence no longer subject to the GDPR.

GA4GH Chair Ewan Birney participated in the creation of the first reference human genome and is now involved in the roll-out of large-scale clinical genomics. His story is illustrative of a much bigger movement of genomics into healthcare over the past decade.

Article 89(2) allows derogations from data subject rights where personal data are processed for scientific/historical research or statistical purposes. Article 89(3) allows derogations where data are processed for archiving purposes in the public interest. This Brief only considers provisions relating to scientific research.

GDPR Brief: How can researchers approach international data transfers under the GDPR?

Data controllers that plan to transfer personal data to a non-EU/EEA country or international organization (including for onward transfers of personal data from the third country or an international organization to another third country or to another international organization) must be mindful of the GDPR’s strict provisions on international data transfers.

David Bernick and Jean-Pierre Hubaux take on leadership of GA4GH Data Security Work Stream

New GA4GH Data Security Work Stream Leads David Bernick and Jean-Pierre Hubaux aim to build on the progress that the work stream has done and tackle new challenges in genomic data privacy and security.

Consent under the GDPR must generally be given for a specific purpose. But Recital 33 broadens this to allow “consent to certain areas of scientific research when in keeping with recognised ethical standards for scientific research”. The justification given is that in research, it’s often not possible to fully identify the purpose at the time of data collection.

Extensions to the GA4GH Beacon API will enable a more powerful community resource

In a letter to the editor of Nature Biotechnology published on 4 March 2019, members of the Global Alliance for Genomics and Health present current and future extensions of the Beacon API — an open-source web-based protocol for making anonymised genomic data discoverable for research and clinical purposes.

GDPR Brief: What is the difference between research ethics consent and data protection consent?

Informed consent is a powerful ethico-legal requirement in most interventional biomedical research involving human participants. But consent to participate in research is a distinct notion from consent pursuant to the GDPR.

The Steering Committee of the Global Alliance for Genomics and Health (GA4GH) unanimously approved the Data Use Ontology (DUO) for inclusion in its suite of technical standards for sharing genomic and health related data.

GDPR Brief: What information can research participants demand under the GDPR?

Research participants enjoy the same rights under the GDPR, generally speaking, as do other individuals whose personal data are processed (collectively known as “data subjects”). The right of access to one’s personal data is the first among a constellation of data-subject rights guaranteed by the GDPR, along with a right to rectification and erasure, among others.

The GA4GH Data Use Ontology (DUO) allows users to semantically tag genomic datasets with usage restrictions, allowing them to become automatically discoverable based on a health, clinical, or biomedical researcher’s authorization level or intended use.

The BRCA Exchange, a global resource that includes data on thousands of inherited variants in the BRCA1 and BRCA2 genes, is now available through a website and a new smartphone app. A paper detailing the development of the BRCA Exchange was published January 8, 2019 by PLOS Genetics.

Individual opportunity increasingly depends on automated decisions by companies and (prospective) employers. Any automated decision-making, including profiling, is subject to the usual requirements of the GDPR.

In a paper released today in the American Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) highlight the diverse approaches being taken around the world to integrate genomics into healthcare and present a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

It is with great enthusiasm and gratitude that we announce several changes to the GA4GH leadership team: Heidi Rehm replaces David Haussler as Vice Chair; Moran Cabili and Tommi Nyrönen replace Ravi Pandya and Anthony Philippakis as DURI Work Stream Leads; Michael Baudis replaces Harindra Arachchi as Discovery Work Stream Lead; and Jean-Pierre Hubaux replaces Paul Flicek as Data Security Work Stream Lead.

What specific protections apply to health-related, genetic, or biometric data?

In the eyes of the GDPR, not all data are equal. Rather, ‘special categories’ of personal data are given additional protection. In the December 2018 installment of the GDPR Forum Brief, Johan Ordish and Alison Hall of the PHG Foundation discuss those of relevance to the genomics and health community.

Guest Post: Putting the "Global" in the Global Alliance for Genomics and Health

Nearly six years ago, 50 colleagues came together in a conference room in New York City to discuss the future of genomics. With delegates from eight different countries, they represented an international, interdisciplinary field of researchers, clinicians, and professionals who knew that massive amounts of data were on the horizon and that a plan was needed to make the most of it all. One thing was clear: the plan needed to be global.

In September, members of the GA4GH Regulatory and Ethics Work Stream (REWS) published a special issue of the journal Human Genetics, focused on genomic data sharing. The series of review articles includes an overview of the regulatory frameworks that have come to bear in seven different countries.

Refget, a new API from the Large Scale Genomics Work Stream retrieves genomic reference sequences using “checksums” — small algorithms that tag a bit of data with an identifier that can be used to verify its integrity.

The GDPR has a global territorial reach. Article 3 states that the GDPR applies to the processing of personal data in the context of the activities of an establishment (e.g. office, site) of an organization in the European Economic Area (EEA, which constitutes the 28 EU Member States as well as Iceland, Liechtenstein, and Norway), regardless of whether the processing takes place in the EEA or not.

ELIXIR and the Global Alliance for Genomics and Health (GA4GH) have announced the release of the Beacon API v1 — a data discovery protocol that allows users to determine the presence or absence of a particular allele in a dataset, without disclosing any further data differentiating the individuals it contains.

Anonymisation is the irreversible alteration of data so that its human subjects are no longer identifiable. Though this makes it incompatible with longitudinal follow-up, and is therefore generally discouraged in precision medicine, itcan be an attractive option to comply with data protection law. Indeed, the GDPR does not regulate anonymised data at all, and insists on keeping data in an identifiable form for no longer than necessary for the purposes for which it is processed.

GA4GH will select up to five new Driver Projects for 2019, focusing on international genomic data initiatives that can increase the organization’s global representation, have significant scientific merit, and capacity to contribute to GA4GH development efforts.

Three new deliverables from the GA4GH Connect strategic roadmap, released today at the GA4GH 6th Plenary Meeting, address issues of variant discovery, reference sequence harmonisation, and cloud computing.

A harmonised resource for clinical interpretations of cancer mutations

A new resource developed by the Variant Interpretation for Cancer Consortium (VICC), a GA4GH Driver Project, makes clinical interpretation of variants much more consistent by aggregating known information about mutations associated with non-hereditary cancer.

Introducing the GA4GH GDPR and International Health Data Sharing Forum

A new task team of the GA4GH Regulatory and Ethics Work Stream, the GDPR and International Health Data Sharing Forum, will begin publish monthly “GDPR Briefs” that answer important questions about the GDPR’s impact on various aspects of international health research and genomic and health-related data sharing, and that further explore the various issues raised in an initial Primer, released on September 4.

The General Data Protection Regulation (GDPR), which took full legal effect across the European Union (EU) on 25 May 2018, has a number of implications for international health research involving the collection, use, and cross-border sharing of people’s personal data. Such research includes genomics research.

In a new video to accompany the recent publication about developing an international survey to gather global attitudes toward genomics, Your DNA Your Say study authors discuss the “why” and the “how” of the survey they built, and the complexities and nuances of translating it into different languages in order to reach as many global lay publics as possible.

In an article published in the European Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) propose a novel “registered access” data access model that aims to increase and improve access to genomic data for use in research.

In a comment piece for <em>The Lancet Oncology</em>, a collaborative team of international researchers from GA4GH and beyond outlines the imperative for maintaining public trust in the use of health data for research.

The Global Alliance for Genomics and Health (GA4GH) has always prioritized responsible, ethical data sharing. Responsibility and the right to benefit from genomic research are at the heart of everything we do. After recent discussions in the international, mainstream media, this message bears repeating.

htsget, GA4GH’s streaming API, is a bridge to the future for modern genomic data processing

In an article recently published in the European Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) propose a new model for data access termed “registered access.” This tier between open access and controlled access aims to increase and improve access to genomic data for use in research.

The new Framework developed by GA4GH Member organization H3Africa aims to guide ethically responsible biomedical research in Africa and builds on the work of the GA4GH Regulatory and Ethics Work Stream.

The All of Us Research Program aims to gather data from one million or more people living in the United States to accelerate research and improve health. It will use GA4GH data sharing standards to ensure its efforts are compatible with similar initiatives around the globe.

GA4GH regulatory and ethics lead Bartha Maria Knoppers discusses the Framework for Responsible Sharing of Genomic and Health-Related Data, broad consent, the European General Data Protection Regulation (GDPR), and planned REWS activities for the coming year.

As a pioneer in genetics research, a leader in the Human Genome Project, and the founding director of the Wellcome Sanger Institute (a GA4GH Host Institution), Sir John was one of the most vocal champions of the open science mandate upon which our organization was founded—we are deeply indebted to him and to his contributions to the field.

Founding GA4GH Chair David Altshuler discusses the organization’s history and the need to enable responsible genomic data sharing — a need he says is even more relevant today than it was five years ago.

The Global Alliance for Genomics and Health (GA4GH) has announced a series of more than two dozen deliverables to be launched in 2018 and developed over the next one to three years, laying the groundwork for real-world genomic data sharing by 2022.

The GA4GH 2018 Strategic Roadmap includes the first 28 standards and frameworks to be developed under GA4GH Connect, a new phase of the organization focused on aligning with the key needs of the international genomic data community.

The Global Alliance for Genomics and Health (GA4GH) has struck formal collaborations with 15 international genomic data initiatives as 2017 Driver Projects, including Genomics England, Australian Genomics and the U.S. All of Us Research Program. The announcement, made at the GA4GH 5th Plenary Meeting, comes as part of the launch of GA4GH Connect: A 5-year Strategic Plan.

If every individual has millions of unique variants in their DNA, how can clinicians be expected to tease out a handful of disease causing mutations from a haystack of inconsequential variants? To aid their cause, public human genomic variant databases have sprung up to catalog variants that cause (or do not cause) disease.

Justin Vachon was born in 1997 with a neurological disorder so rare it had never been seen in a Canadian clinic before. His family had to wait until 2016 for the genetic underpinnings for his disorder to be identified.

The Global Alliance for Genomics and Health (GA4GH) welcomed its 500th Organizational Member this week, solidifying its role as the international standards setting body for genomic and health-related data.

Francis Collins and Harold Varmus will be at the GA4GH 5th Plenary Meeting in Orlando, Florida to help launch the organization’s 5-year strategic plan on October 17, 2017. Drs. Varmus and Collins, who are both members of the GA4GH Strategic Advisory Board and hold a legacy of commitment to the organization’s mission, will also discuss the importance of international open science following the launch event.

In a perspective paper published in the New England Journal of Medicine (NEJM), members of the Global Alliance for Genomics and Health (GA4GH) Clinical Cancer Genome Task Team call on the international community to put more resources – people, data, infrastructure and policy change – toward cancer genomic data sharing.

In a paper recently published in the Journal of the American Medical Information Association, a team of GA4GH security experts put forth three new strategies for mitigating the risks of cyber attacks on Beacon datasets.

The BRCA Exchange aims to advance our understanding of the genetic basis of breast cancer, ovarian cancer and other diseases by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world

GA4GH and others call for an international coalition of data resources

In a Correspondence to Nature Magazine released this week, GA4GH Executive Director Peter Goodhand and other members of the Global Life Sciences Data Resources (GLSDR) Working Group call for a global coalition of data resources that would ensure important life sciences data remain freely available to the scientific community well into the future.

Almost sixty percent of the human population resides in Asia and Africa, but only a fraction of the world’s human genomic sequencing efforts cover that community. That’s more than 4 billion individuals whose genomes are not well represented by current sequencing efforts, placing them squarely outside the promise of precision medicine.

Policy recommendations for sharing data in the US Cancer Moonshot project

In his 2016 State of the Union Address, former U.S. president Barack Obama announced a “Cancer Moonshot” project to dramatically accelerate cancer research and improved prevention, diagnosis, and treatment efforts.

The Beacon Project of the Global Alliance for Genomics and Health (GA4GH) and ELIXIR, the European infrastructure for life-science data, announced today an expansion of their partnership to improve the discoverability of European genomic data.

Back in May 2016, the GA4GH Participant Values task team launched a global research study to probe public attitudes toward sharing DNA and medical data. The project, Your DNA, Your Say, is unique in its delivery.

Last week, Big Data 2 Knowledge (BD2K) held its annual all hands 2-day meeting, followed by a 1-day public symposium on open data science. BD2K is an initiative of the US National Institutes of Health (NIH) aimed at turning “biomedical research into a digital enterprise.”

The Global Alliance for Genomics and Health (GA4GH) today announced a new Application Programming Interface (API) developed by the Global Alliance’s Data Working Group that will allow DNA data providers and consumers to better share information and work together on a global scale.

The Global Alliance for Genomics in Health (GA4GH) has appointed Ewan Birney PhD, Director of the European Bioinformatics Institute (EMBL-EBI) and nonexecutive Director of Genomics England, to lead the consortium’s efforts to accelerate medical and research advancements through the responsible sharing of genomic and clinical data. Birney will assume the new role on 1 November.

We at the Global Alliance for Genomics and Health are serious about our mission of transforming medicine and improving human health through data sharing. Since our founding in 2013, GA4GH has expanded the global conversation about genomics and health in many ways. We convene stakeholders with expertise in genomics, security, regulations and ethics, informatics, computing, and clinical genetics.

In today’s Science, the Global Alliance for Genomics and Health (GA4GH) calls for a federated data ecosystem for sharing genomic and clinical data. The diverse authorship, which includes international leaders in academia, research, medicine, and industry, argues that a common framework of principles, protocols, and interoperable technical systems are necessary to enable responsible and effective data sharing.

A recent paper from the Global Alliance for Genomics and Health (GA4GH) highlights the potential of “big data” to unlock the secrets inside cancer cells and enable the development of more effective personalised treatments.

The BRCA Challenge, a Demonstration Project of the Global Alliance for Genomics and Health(GA4GH), will release the newest version of the BRCA Exchange web portal on April 3, 2016 in advance of the annual meeting of the International Congress of Human Genetics (ICHG) in Kyoto, Japan.

The BRCA Challenge, a Demonstration Project of the Global Alliance for Genomics and Health(GA4GH), will release the newest version of the BRCA Exchange web portal on April 3, 2016 in advance of the annual meeting of the International Congress of Human Genetics (ICHG) in Kyoto, Japan.

On April 3, 2016, GA4GH hosted a global engagement workshop to coincide with the Annual Meeting of the International Congress of Human Genetics (ICHG). Additionally, a joint session with the International Rare Diseases Research Consortium (IRDiRC) was held during the main body of the conference on April 6.

Developing ethics review mutual recognition for data-intensive international research

Genomic research holds great potential to advance human health and medicine. However, for the millions of data points now being collected through large-scale sequencing efforts to be truly valuable, they must be analyzed in aggregate and shared across institutions and jurisdictions.

The Global Alliance for Genomics and Health (GA4GH), an international coalition dedicated to improving human health by maximizing the potential of genomic medicine, marked its second anniversary this month.

Global Alliance for Genomics and Health Members Meet to Advance Genomic Data Sharing

The Global Alliance for Genomics and Health convened its second major meeting of 2014 today, bringing together more than 250 international leaders to collaborate on the development of innovative solutions to accelerate sharing of genomic and clinical data. At their plenary meeting, held in San Diego, California, Alliance members shared progress to date and discussed next steps for the effort.

Global Genes™ Honors Work of the Global Alliance for Genomics and Health

The work of the Global Alliance for Genomics and Health (GA4GH) was recognized at the 3rd Annual Tribute to Champions of Hope Gala of Global Genes™, an event honoring those who are leading the fight against rare disease.

New pan-Canadian program to accelerate data sharing objectives of the Global Alliance for Genomics and Health

Genome Canada and the Canadian Institutes of Health Research (CIHR) today announced a $3.3 million investment in Can­SHARE – a pan­Canadian program that will enable innovation in the use of genomic data for health care for patients in Canada and worldwide.

The Beacon Project is one of three data sharing demonstration projects of the Global Alliance for Genomics and Health (GA4GH). It is an effort to enable international sites to share genetic data to improve human health in the simplest of technical contexts. It is based on a yes/no query that tells searchers whether a specific genetic variant is contained in a participating database.

Global Alliance Focused on Responsible Data Sharing Shows Progress in Standards Development and Membership at First Partner Meeting

The Global Alliance for Genomics and Health (GA4GH), an alliance of over 150 of the world’s leading biomedical research institutions, healthcare providers, information technology and life science companies, funders of research, and disease and patient advocacy organizations, announced progress since the group’s formation and plans for future work at a partner meeting held today at the Wellcome Trust in London.